ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1736-14G>A

gnomAD frequency: 0.00552  dbSNP: rs116117684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126653 SCV000170162 benign not specified 2013-12-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055662 SCV002432300 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498618 SCV002809430 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-10-13 criteria provided, single submitter clinical testing

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